EP1187844A4 - Human carbamyl phosphate synthetase i polymorphism and diagnostic and therapeutic methods relating thereto - Google Patents
Human carbamyl phosphate synthetase i polymorphism and diagnostic and therapeutic methods relating theretoInfo
- Publication number
- EP1187844A4 EP1187844A4 EP00939475A EP00939475A EP1187844A4 EP 1187844 A4 EP1187844 A4 EP 1187844A4 EP 00939475 A EP00939475 A EP 00939475A EP 00939475 A EP00939475 A EP 00939475A EP 1187844 A4 EP1187844 A4 EP 1187844A4
- Authority
- EP
- European Patent Office
- Prior art keywords
- polymorphism
- diagnostic
- therapeutic methods
- methods relating
- phosphate synthetase
- Prior art date
- Legal status (The legal status is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the status listed.)
- Withdrawn
Links
Classifications
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
- C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
- C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
- C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
-
- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
- A61K31/00—Medicinal preparations containing organic active ingredients
- A61K31/185—Acids; Anhydrides, halides or salts thereof, e.g. sulfur acids, imidic, hydrazonic or hydroximic acids
- A61K31/19—Carboxylic acids, e.g. valproic acid
-
- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
- A61P7/00—Drugs for disorders of the blood or the extracellular fluid
-
- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
- A61P9/00—Drugs for disorders of the cardiovascular system
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
- C12N9/00—Enzymes; Proenzymes; Compositions thereof; Processes for preparing, activating, inhibiting, separating or purifying enzymes
- C12N9/93—Ligases (6)
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Y—ENZYMES
- C12Y603/00—Ligases forming carbon-nitrogen bonds (6.3)
- C12Y603/04—Other carbon-nitrogen ligases (6.3.4)
- C12Y603/04016—Carbamoyl-phosphate synthase (ammonia) (6.3.4.16)
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Y—ENZYMES
- C12Y603/00—Ligases forming carbon-nitrogen bonds (6.3)
- C12Y603/05—Carbon-nitrogen ligases with glutamine as amido-N-donor (6.3.5)
- C12Y603/05005—Carbamoyl-phosphate synthase (glutamine-hydrolysing) (6.3.5.5)
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/156—Polymorphic or mutational markers
Priority Applications (4)
Application Number | Priority Date | Filing Date | Title |
---|---|---|---|
DK06005642.1T DK1690535T3 (en) | 1999-06-01 | 2000-06-01 | Therapeutic use of a nitric oxide precursor |
EP10185406.5A EP2361621B1 (en) | 1999-06-01 | 2000-06-01 | Human carbamyl phosphate synthetase I polymorphism and diagnostic and therapeutic methods relating thereto |
EP10185438A EP2335693A3 (en) | 1999-06-01 | 2000-06-01 | Therapeutic use of nitric oxide precursor |
EP20060005642 EP1690535B1 (en) | 1999-06-01 | 2000-06-01 | Therapeutic use of nitric oxide precursor |
Applications Claiming Priority (3)
Application Number | Priority Date | Filing Date | Title |
---|---|---|---|
US09/323,472 US6346382B1 (en) | 1999-06-01 | 1999-06-01 | Human carbamyl phosphate synthetase I polymorphism and diagnostic methods related thereto |
US323472 | 1999-06-01 | ||
PCT/US2000/015079 WO2000073322A1 (en) | 1999-06-01 | 2000-06-01 | Human carbamyl phosphate synthetase i polymorphism and diagnostic and therapeutic methods relating thereto |
Related Child Applications (2)
Application Number | Title | Priority Date | Filing Date |
---|---|---|---|
EP20060005642 Division EP1690535B1 (en) | 1999-06-01 | 2000-06-01 | Therapeutic use of nitric oxide precursor |
EP10185406.5A Division EP2361621B1 (en) | 1999-06-01 | 2000-06-01 | Human carbamyl phosphate synthetase I polymorphism and diagnostic and therapeutic methods relating thereto |
Publications (2)
Publication Number | Publication Date |
---|---|
EP1187844A1 EP1187844A1 (en) | 2002-03-20 |
EP1187844A4 true EP1187844A4 (en) | 2003-09-03 |
Family
ID=23259343
Family Applications (4)
Application Number | Title | Priority Date | Filing Date |
---|---|---|---|
EP10185438A Ceased EP2335693A3 (en) | 1999-06-01 | 2000-06-01 | Therapeutic use of nitric oxide precursor |
EP10185406.5A Expired - Lifetime EP2361621B1 (en) | 1999-06-01 | 2000-06-01 | Human carbamyl phosphate synthetase I polymorphism and diagnostic and therapeutic methods relating thereto |
EP20060005642 Expired - Lifetime EP1690535B1 (en) | 1999-06-01 | 2000-06-01 | Therapeutic use of nitric oxide precursor |
EP00939475A Withdrawn EP1187844A4 (en) | 1999-06-01 | 2000-06-01 | Human carbamyl phosphate synthetase i polymorphism and diagnostic and therapeutic methods relating thereto |
Family Applications Before (3)
Application Number | Title | Priority Date | Filing Date |
---|---|---|---|
EP10185438A Ceased EP2335693A3 (en) | 1999-06-01 | 2000-06-01 | Therapeutic use of nitric oxide precursor |
EP10185406.5A Expired - Lifetime EP2361621B1 (en) | 1999-06-01 | 2000-06-01 | Human carbamyl phosphate synthetase I polymorphism and diagnostic and therapeutic methods relating thereto |
EP20060005642 Expired - Lifetime EP1690535B1 (en) | 1999-06-01 | 2000-06-01 | Therapeutic use of nitric oxide precursor |
Country Status (8)
Country | Link |
---|---|
US (4) | US6346382B1 (en) |
EP (4) | EP2335693A3 (en) |
AU (1) | AU5455600A (en) |
DK (1) | DK1690535T3 (en) |
ES (1) | ES2539272T3 (en) |
HK (1) | HK1097437A1 (en) |
PT (1) | PT1690535E (en) |
WO (1) | WO2000073322A1 (en) |
Families Citing this family (42)
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US6346382B1 (en) | 1999-06-01 | 2002-02-12 | Vanderbilt University | Human carbamyl phosphate synthetase I polymorphism and diagnostic methods related thereto |
US9486429B2 (en) * | 1999-06-01 | 2016-11-08 | Vanderbilt University | Therapeutic methods employing nitric oxide precursors |
US6627199B1 (en) * | 1999-07-09 | 2003-09-30 | Amgen Inc | Isolation, identification and characterization of tmst2, a novel member of the TNF-receptor supergene family |
US6596489B2 (en) | 2001-03-30 | 2003-07-22 | Applied Gene Technologies | Methods and compositions for analyzing nucleotide sequence mismatches using RNase H |
WO2003054143A2 (en) * | 2001-10-25 | 2003-07-03 | Neurogenetics, Inc. | Genes and polymorphisms on chromosome 10 associated with alzheimer's disease and other neurodegenerative diseases |
US20030224380A1 (en) * | 2001-10-25 | 2003-12-04 | The General Hospital Corporation | Genes and polymorphisms on chromosome 10 associated with Alzheimer's disease and other neurodegenerative diseases |
EP1355159A1 (en) | 2002-04-19 | 2003-10-22 | B.R.A.H.M.S Aktiengesellschaft | Use of fragments of carbamyl phosphate synthetase I (CPS 1) for the diagnosis of inflammatory diseases and sepsis |
DE102004045705A1 (en) | 2004-09-21 | 2006-04-06 | B.R.A.H.M.S Ag | Uses of carbamoyl phosphate synthetase 1 (CPS) as a humoral biomarker for the diagnosis of tumors and inflammatory bowel disease |
DE102006021406B4 (en) * | 2006-05-08 | 2008-08-07 | B.R.A.H.M.S Aktiengesellschaft | In vitro method for the early detection of drug- and addiction-induced liver damage and for the detection of the already reached stage of liver damage |
PT2247297T (en) * | 2008-01-31 | 2019-04-24 | Univ Vanderbilt | Therapeutic treatment for lung conditions |
HUE045571T2 (en) | 2008-01-31 | 2020-01-28 | Univ Vanderbilt | Methods and compositions for treatment for coronary and arterial aneurysmal subarachnoid hemorrhage |
PL3338765T3 (en) | 2009-12-01 | 2019-06-28 | Translate Bio, Inc. | Steroid derivative for the delivery of mrna in human genetic diseases |
EP3578205A1 (en) | 2010-08-06 | 2019-12-11 | ModernaTX, Inc. | A pharmaceutical formulation comprising engineered nucleic acids and medical use thereof |
US20120237975A1 (en) | 2010-10-01 | 2012-09-20 | Jason Schrum | Engineered nucleic acids and methods of use thereof |
WO2012075040A2 (en) | 2010-11-30 | 2012-06-07 | Shire Human Genetic Therapies, Inc. | mRNA FOR USE IN TREATMENT OF HUMAN GENETIC DISEASES |
EP2691101A2 (en) | 2011-03-31 | 2014-02-05 | Moderna Therapeutics, Inc. | Delivery and formulation of engineered nucleic acids |
EP4043025A1 (en) | 2011-06-08 | 2022-08-17 | Translate Bio, Inc. | Lipid nanoparticle compositions and methods for mrna delivery |
US9464124B2 (en) | 2011-09-12 | 2016-10-11 | Moderna Therapeutics, Inc. | Engineered nucleic acids and methods of use thereof |
CA2850624A1 (en) | 2011-10-03 | 2013-04-11 | Moderna Therapeutics, Inc. | Modified nucleosides, nucleotides, and nucleic acids, and uses thereof |
KR20140102759A (en) | 2011-12-16 | 2014-08-22 | 모더나 세라퓨틱스, 인코포레이티드 | Modified nucleoside, nucleotide, and nucleic acid compositions |
US9283287B2 (en) | 2012-04-02 | 2016-03-15 | Moderna Therapeutics, Inc. | Modified polynucleotides for the production of nuclear proteins |
US9572897B2 (en) | 2012-04-02 | 2017-02-21 | Modernatx, Inc. | Modified polynucleotides for the production of cytoplasmic and cytoskeletal proteins |
US9878056B2 (en) | 2012-04-02 | 2018-01-30 | Modernatx, Inc. | Modified polynucleotides for the production of cosmetic proteins and peptides |
CA2868398A1 (en) | 2012-04-02 | 2013-10-10 | Moderna Therapeutics, Inc. | Modified polynucleotides for the production of cosmetic proteins and peptides |
EP2859102A4 (en) | 2012-06-08 | 2016-05-11 | Shire Human Genetic Therapies | Nuclease resistant polynucleotides and uses thereof |
JP6144355B2 (en) | 2012-11-26 | 2017-06-07 | モデルナティエックス インコーポレイテッドModernaTX,Inc. | Chemically modified mRNA |
EP2970955B1 (en) | 2013-03-14 | 2018-11-14 | Translate Bio, Inc. | Methods for purification of messenger rna |
PT2968586T (en) | 2013-03-14 | 2018-11-13 | Ethris Gmbh | Cftr mrna compositions and related methods and uses |
US8980864B2 (en) | 2013-03-15 | 2015-03-17 | Moderna Therapeutics, Inc. | Compositions and methods of altering cholesterol levels |
JP2016538829A (en) | 2013-10-03 | 2016-12-15 | モデルナ セラピューティクス インコーポレイテッドModerna Therapeutics,Inc. | Polynucleotide encoding low density lipoprotein receptor |
AU2014340092B2 (en) | 2013-10-22 | 2019-09-19 | Translate Bio, Inc. | mRNA therapy for Argininosuccinate Synthetase Deficiency |
WO2015061491A1 (en) | 2013-10-22 | 2015-04-30 | Shire Human Genetic Therapies, Inc. | Mrna therapy for phenylketonuria |
SG11201608725YA (en) | 2014-04-25 | 2016-11-29 | Shire Human Genetic Therapies | Methods for purification of messenger rna |
US11102994B2 (en) * | 2014-08-21 | 2021-08-31 | Clearfast Inc. | Pre-operative carbohydrate-rich beverage composition and methods of treatment |
KR102320547B1 (en) * | 2015-06-29 | 2021-11-01 | 반더빌트유니버시티 | Intravenous administration of citrulline during surgery |
EP3367975A4 (en) * | 2015-10-28 | 2019-08-07 | Launchpad Medical, LLC | Compositions and methods for regeneration of bone tissue |
US10265286B2 (en) * | 2016-12-28 | 2019-04-23 | Vanderbilt University | Sequelae of cardiopulmonary bypass-induced pulmonary injury |
AR111082A1 (en) * | 2017-02-27 | 2019-05-29 | Univ Vanderbilt | CITRULINE FOR THE TREATMENT OF THE FALCIFORM CELL CRISIS |
WO2018157154A2 (en) | 2017-02-27 | 2018-08-30 | Translate Bio, Inc. | Novel codon-optimized cftr mrna |
EP3624824A1 (en) | 2017-05-16 | 2020-03-25 | Translate Bio, Inc. | Treatment of cystic fibrosis by delivery of codon-optimized mrna encoding cftr |
AU2019325702A1 (en) | 2018-08-24 | 2021-02-25 | Translate Bio, Inc. | Methods for purification of messenger RNA |
EP3931312A4 (en) * | 2019-02-27 | 2022-08-24 | The Regents of The University of Michigan | Carbamoyl phosphate synthetase-1 for the treatment and prevention of liver injury |
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US6346382B1 (en) | 1999-06-01 | 2002-02-12 | Vanderbilt University | Human carbamyl phosphate synthetase I polymorphism and diagnostic methods related thereto |
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-
1999
- 1999-06-01 US US09/323,472 patent/US6346382B1/en not_active Expired - Lifetime
-
2000
- 2000-06-01 DK DK06005642.1T patent/DK1690535T3/en active
- 2000-06-01 EP EP10185438A patent/EP2335693A3/en not_active Ceased
- 2000-06-01 PT PT60056421T patent/PT1690535E/en unknown
- 2000-06-01 WO PCT/US2000/015079 patent/WO2000073322A1/en not_active Application Discontinuation
- 2000-06-01 EP EP10185406.5A patent/EP2361621B1/en not_active Expired - Lifetime
- 2000-06-01 EP EP20060005642 patent/EP1690535B1/en not_active Expired - Lifetime
- 2000-06-01 ES ES06005642.1T patent/ES2539272T3/en not_active Expired - Lifetime
- 2000-06-01 US US09/585,077 patent/US6743823B1/en not_active Expired - Lifetime
- 2000-06-01 AU AU54556/00A patent/AU5455600A/en not_active Abandoned
- 2000-06-01 EP EP00939475A patent/EP1187844A4/en not_active Withdrawn
-
2007
- 2007-02-14 HK HK07101773.4A patent/HK1097437A1/en not_active IP Right Cessation
-
2008
- 2008-05-16 US US12/122,117 patent/US8188147B2/en not_active Expired - Fee Related
-
2012
- 2012-04-25 US US13/456,014 patent/US8536225B2/en not_active Expired - Fee Related
Non-Patent Citations (6)
Title |
---|
FEARON E R ET AL: "GENETIC ANALYSIS OF CARBAMYL PHOSPHATE SYNTHETASE I DEFICIENCY", HUMAN GENETICS, vol. 70, no. 3, 1985, pages 207 - 210, XP009008846, ISSN: 0340-6717 * |
FINCKH ET AL: "Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1", HUMAN MUTATION, WILEY-LISS, NEW YORK, NY, US, vol. 12, no. 3, 1998, pages 206 - 211, XP002117353, ISSN: 1059-7794 * |
GHISHAN PETER ET AL: "Polymerase chain reaction (PCR) detectable polymorphisms in the prenatal diagnosis of carbamyl phosphate synthetase I deficiency.", GASTROENTEROLOGY, vol. 106, no. 4 SUPPL., 1994, 95th Annual Meeting of the American Gastroenterological Association;New Orleans, Louisiana, USA; May 15-18, 1994, pages A1028, XP009008849, ISSN: 0016-5085 * |
HARAGUCHI Y ET AL: "CLONING AND SEQUENCE OF A CDNA ENCODING HUMAN CARBAMYL PHOSPHATE SYNTHETASE I MOLECULAR ANALYSIS OF HYPERAMMONEMIA", GENE (AMSTERDAM), vol. 107, no. 2, 1991, pages 335 - 340, XP001146912, ISSN: 0378-1119 * |
See also references of WO0073322A1 * |
VNENCAK-JONES C L ET AL: "Efficacy of prenatal DNA testing for carbamyl phosphate synthetase I deficiency.", AMERICAN JOURNAL OF HUMAN GENETICS, vol. 51, no. 4 SUPPL., 1992, The American Society of Human Genetics 42nd Annual Meeting;San Francisco, California, USA; November 9-13, 1992, pages A357, XP009008848, ISSN: 0002-9297 * |
Also Published As
Publication number | Publication date |
---|---|
US8188147B2 (en) | 2012-05-29 |
ES2539272T3 (en) | 2015-06-29 |
EP1690535A3 (en) | 2007-07-18 |
US6743823B1 (en) | 2004-06-01 |
US6346382B1 (en) | 2002-02-12 |
EP2361621A1 (en) | 2011-08-31 |
US20080234379A1 (en) | 2008-09-25 |
WO2000073322A1 (en) | 2000-12-07 |
US20120252895A1 (en) | 2012-10-04 |
EP1690535A2 (en) | 2006-08-16 |
AU5455600A (en) | 2000-12-18 |
PT1690535E (en) | 2015-07-30 |
EP1690535B1 (en) | 2015-04-29 |
EP2335693A3 (en) | 2011-09-28 |
DK1690535T3 (en) | 2015-06-29 |
US8536225B2 (en) | 2013-09-17 |
EP2335693A2 (en) | 2011-06-22 |
EP2361621B1 (en) | 2017-08-09 |
EP1187844A1 (en) | 2002-03-20 |
HK1097437A1 (en) | 2007-06-29 |
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